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[Clinical characteristics and genetic analysis of a child with Cantú syndrome due to variant of ABCC9 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
To explore the clinical characteristics and pathogenic variant in a child with Cantú syndrome (CS).A male who was admitted to the Children's Hospital Affiliated to Zhengzhou University on February 23, 2022 was selected as the study subject. Clinical data of the child was collected.
Mengjun, Xiao   +5 more
openaire   +1 more source

Novel variants of ABCC9 in Japanese children with Cantú syndrome

Pediatrics International, 2020
Kazuo Kubota, Naomichi Matsumoto
exaly  

Cantú syndrome with novel pathogenic variant in nucleotide‐binding domain 1 of ABCC9

Pediatrics International, 2020
Takayuki Yokoi   +2 more
exaly  

Novel human ABCC9/SUR2 brain‐expressed transcripts and an eQTL relevant to hippocampal sclerosis of aging

Journal of Neurochemistry, 2015
Peter T Nelson   +2 more
exaly  

Abcc9 is required for the transition to oxidative metabolism in the newborn heart

FASEB Journal, 2014
Nian-Qing Shi   +2 more
exaly  

SÍNDROME DE CANTÚ: O PRIMEIRO BRASILEIRO COM MUTAÇÃO CONFIRMADA DO GENE ABCC9

Anais do III CBMED e I COEMED SP, 2019
Samilly Laíssa de Oliveira Alves   +3 more
openaire   +1 more source

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